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Pseudohypoaldosteronism type 1

MONDO:0019161

A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration.

Also known as: PHA type 1, pseudohypoaldosteronism, type I, PHA1B, pseudohypoaldosteronism type I autosomal recessive

3 clinical trials for this condition and its sub-types, 1 tagged with Pseudohypoaldosteronism type 1 itself.

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↑ Inherited renal tubular disease (40) ↑ Inherited pseudohypoaldosteronism (4)

Sub-types of Pseudohypoaldosteronism type 1

Autosomal dominant pseudohypoaldosteronism type 1 1 trial
Pseudohypoaldosteronism, type IB1, autosomal recessive 0 trials
Pseudohypoaldosteronism, type IB2, autosomal recessive 0 trials
Pseudohypoaldosteronism, type IB3, autosomal recessive 0 trials

Including sub-types (3) Tagged with Pseudohypoaldosteronism type 1 (1)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Pseudohypoaldosteronism type 1

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth